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Entry
- #154780 - MARSHALL SYNDROME; MRSHS
- OMIM
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<span class="h4">#154780</span>
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/154780"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#nomenclature">Nomenclature</a>
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<li role="presentation">
<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=(MARSHALL SYNDROME) OR (COL11A1)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=540&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
<div><a href="https://www.diseaseinfosearch.org/x/4487" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=154780[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=560" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/2b213cb2-74b3-463c-b9c0-f7d608f29c55/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<div style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111510" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
<div><a href="http://www.informatics.jax.org/disease/154780" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
<div><a href="https://omia.org/OMIA001522/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
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<div style="display: table-cell;">Cell Lines</div>
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</a>
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:154780" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 33410002<br />
<strong>ORPHA:</strong> 560<br />
<strong>DO:</strong> 0111510<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
154780
</span>
</span>
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<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
MARSHALL SYNDROME; MRSHS
</span>
</h3>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/848?start=-3&limit=10&highlight=848">
1p21.1
</a>
</span>
</td>
<td>
<span class="mim-font">
Marshall syndrome
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/154780"> 154780 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
COL11A1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120280"> 120280 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
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<a href="/clinicalSynopsis/154780" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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&nbsp;
<div class="btn-group">
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PheneGene Graphics <span class="caret"></span>
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<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/154780" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/154780" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Height </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Flat midface <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1858085&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858085</a>, <a href="https://bioportal.bioontology.org/search?q=C1853242&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853242</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011800" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011800</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000272" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000272</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011800" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011800</a>]</span><br /> -
Micrognathia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32958008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32958008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.04</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.04</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025990&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025990</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Micrognathia-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Long philtrum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865014&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865014</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000343" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000343</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000343" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000343</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6e8169f9668cf95ffe7aad93a28f672b" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Philtrum,Long-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=6e8169f9668cf95ffe7aad93a28f672b&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Sensorineural hearing loss <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60700002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60700002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018784&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018784</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span><br /> -
Low-set ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95515009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95515009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q17.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q17.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239234&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239234</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000369</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000369</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9f0956aaa4fd45c34f94336afbbdc931" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Ear,Low-Set-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9f0956aaa4fd45c34f94336afbbdc931&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Myopia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57190000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57190000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H52.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H52.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/367.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">367.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027092&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027092</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000545" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000545</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000545" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000545</a>]</span><br /> -
Congenital cataracts <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/79410001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">79410001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q12.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q12.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009691&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009691</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000519" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000519</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000519" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000519</a>]</span><br /> -
Esotropia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16596007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16596007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/378.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">378.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/378.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">378.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0014877&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014877</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000565" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000565</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000565" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000565</a>]</span><br /> -
Retinal detachment <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42059000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42059000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H33.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H33.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/361.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">361.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035305&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035305</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000541" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000541</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000541" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000541</a>]</span><br /> -
Glaucoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23986001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23986001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H40-H42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H40-H42</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H40.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H40.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">365</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/365.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">365.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017601&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017601</a>, <a href="https://bioportal.bioontology.org/search?q=C0997768&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0997768</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000501" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000501</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000501" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000501</a>]</span><br /> -
Lens dislocation <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H27.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H27.10</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H27.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H27.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023309&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023309</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001083</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0012019" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012019</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001083</a>]</span><br /> -
Vitreoretinal degeneration <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247182006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247182006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0344290&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344290</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007773" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007773</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007773" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007773</a>]</span><br /> -
Hypertelorism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22006008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22006008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020534</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Eyes,Widely_Spaced-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Epicanthal folds <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74824007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74824007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0678230&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0678230</a>, <a href="https://bioportal.bioontology.org/search?q=C0229249&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0229249</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000286</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000286</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Nose </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short, depressed nose <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835094&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835094</a>]</span><br /> -
Flat nasal bridge <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836542&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836542</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005280</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005280</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=7043769fd21a78a413fd758918cdda17" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Nasal_Bridge,Depressed-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=7043769fd21a78a413fd758918cdda17&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Anteverted nares <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/708670007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">708670007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840077&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840077</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000463" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000463</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000463" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000463</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=656ef0aca7742d97c5769f51f0dd56de" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Nares,Anteverted-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=656ef0aca7742d97c5769f51f0dd56de&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Thick lips <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836543&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836543</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012471" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012471</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012471" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012471</a>]</span><br /> -
Cleft palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63567004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63567004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87979003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87979003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837218&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837218</a>, <a href="https://bioportal.bioontology.org/search?q=C2981150&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2981150</a>, <a href="https://bioportal.bioontology.org/search?q=C2240378&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2240378</a>, <a href="https://bioportal.bioontology.org/search?q=C0008925&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008925</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span><br /> -
Robin sequence <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/4602007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">4602007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q87.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q87.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0031900&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0031900</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000201" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000201</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000201" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000201</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Teeth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Prominent, protruding upper incisors <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835095&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835095</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000675" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000675</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000675" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000675</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Skull </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Calvarial thickening <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1858452&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858452</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002684" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002684</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002684" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002684</a>]</span><br /> -
Absent frontal sinuses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855669&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855669</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002688" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002688</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002688" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002688</a>]</span><br /> -
Falx, tentorial, and meningeal calcifications <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835096&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835096</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Spine </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Mild platyspondyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848999&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848999</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005752" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005752</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Pelvis </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Small iliac bones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861218&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861218</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000946" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000946</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000946" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000946</a>]</span><br /> -
Coxa valga <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/33754009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">33754009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16979000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16979000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299236004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299236004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q65.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q65.81</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.61</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/736.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.31</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0158480&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158480</a>, <a href="https://bioportal.bioontology.org/search?q=C0152430&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152430</a>, <a href="https://bioportal.bioontology.org/search?q=C0239137&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239137</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002673" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002673</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002673" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002673</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Limbs </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Small, irregular distal femoral epiphyses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835097&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835097</a>]</span><br /> -
Small, irregular proximal tibial epiphyses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835098&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835098</a>]</span><br /> -
Outward radial bowing <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835099&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835099</a>]</span><br /> -
Outward ulnar bowing <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835100&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835100</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Wide tufts of distal phalanges <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835101&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835101</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006095" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006095</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006095" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006095</a>]</span><br />
</span>
</div>
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</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Stickler syndrome (<a href="/entry/108300">108300</a>) and Marshall syndrome share several characteristics such as midface hypoplasia, high myopia, and sensorineural hearing loss<br /> -
Marshall syndrome is allelic to Stickler syndrome, type 2 (<a href="/entry/604841">604841</a>)<br />
</span>
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<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the collagen XI, alpha-1 polypeptide gene (COL11A1, <a href="/entry/120280#0002">120280.0002</a>)<br />
</span>
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<p>A number sign (#) is used with this entry because of evidence that Marshall syndrome (MRSHS) is caused by heterozygous mutation in the COL11A1 gene (<a href="/entry/120280">120280</a>) on chromosome 1p21.</p><p>Stickler syndrome type II (<a href="/entry/604841">604841</a>) is an allelic disorder with overlapping features.</p>
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<strong>Description</strong>
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<p>Marshall syndrome (MRSHS) is characterized by midfacial hypoplasia, cleft palate, ocular anomalies including high myopia and cataracts, sensorineural hearing loss, short stature with spondyloepiphyseal dysplasia, and arthropathy. In contrast to Stickler syndrome type II, it has less severe eye findings but striking ocular hypertelorism, more pronounced maxillary hypoplasia, and ectodermal abnormalities (summary by <a href="#17" class="mim-tip-reference" title="Shanske, A. L., Bogdanow, A., Shprintzen, R. J., Marion, R. W. &lt;strong&gt;The Marshall syndrome: report of a new family and review of the literature.&lt;/strong&gt; Am. J. Med. Genet. 70: 52-57, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9129742/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9129742&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19970502)70:1&lt;52::aid-ajmg11&gt;3.0.co;2-w&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9129742">Shanske et al., 1997</a> and <a href="#1" class="mim-tip-reference" title="Ala-Kokko, L., Shanske, A. L. &lt;strong&gt;Mosaicism in Marshall syndrome. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 149A: 1327-1330, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19449424/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19449424&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32873&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19449424">Ala-Kokko and Shanske, 2009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9129742+19449424" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Clinical Features</strong>
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<p><a href="#12" class="mim-tip-reference" title="Marshall, D. &lt;strong&gt;Ectodermal dysplasia: report of kindred with ocular abnormalities and hearing defect.&lt;/strong&gt; Am. J. Ophthal. 45: 143-156, 1958.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13520885/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;13520885&lt;/a&gt;]" pmid="13520885">Marshall (1958)</a> reported 4 generations of a family in which 7 members had (1) nasal defect and facies characteristic of anhidrotic ectodermal dysplasia; (2) congenital and juvenile cataracts; (3) myopia and fluid vitreous; (4) spontaneous, sudden maturation and absorption of congenital cataract; (5) luxation of cataract and (6) congenital hearing loss. Deficiency in sweating was minimal. The transmission was autosomal dominant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13520885" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Marshall, D. &lt;strong&gt;Ectodermal dysplasia: report of kindred with ocular abnormalities and hearing defect.&lt;/strong&gt; Am. J. Ophthal. 45: 143-156, 1958.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13520885/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;13520885&lt;/a&gt;]" pmid="13520885">Marshall (1958)</a> emphasized the ectodermal abnormalities, including defects in sweating and dental structures in the family he reported, which had 7 affected members in 3 generations. <a href="#17" class="mim-tip-reference" title="Shanske, A. L., Bogdanow, A., Shprintzen, R. J., Marion, R. W. &lt;strong&gt;The Marshall syndrome: report of a new family and review of the literature.&lt;/strong&gt; Am. J. Med. Genet. 70: 52-57, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9129742/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9129742&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19970502)70:1&lt;52::aid-ajmg11&gt;3.0.co;2-w&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9129742">Shanske et al. (1997)</a> found reports of 7 subsequently reported families, seemingly with the same disorder; they added an eighth family with 6 affected individuals in 4 generations. The affected individuals had ectodermal dysplasia and ocular hypertelorism, features not shared by Stickler syndrome (see <a href="/entry/108300">108300</a>), Wagner syndrome (<a href="/entry/143200">143200</a>), or Weissenbacher-Zweymuller syndrome (WZS; <a href="/entry/184840">184840</a>), all of which are conditions often confused with Marshall syndrome. The proposita of the African American family had sparse scalp hair and sparse eyebrows and lashes, but her teeth, nails, and sweating were normal. Craniofacial surgery was performed for hypertelorism. Her 2 brothers were also affected and had craniofacial surgery. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9129742+13520885" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Ruppert, E. S., Buerk, E., Pfordresher, M. F. &lt;strong&gt;Hereditary hearing loss with saddle-nose and myopia.&lt;/strong&gt; Arch. Otolaryng. 92: 95-98, 1970.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5422347/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5422347&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archotol.1970.04310010121019&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5422347">Ruppert et al. (1970)</a> described father and daughter with features like those in Marshall's family, namely saddle nose, myopia, and deafness and, in the father, cataracts. <a href="#5" class="mim-tip-reference" title="Cohen, M. M., Jr., Knobloch, W. H., Gorlin, R. J. &lt;strong&gt;A dominantly inherited syndrome of hyaloideo-retinal degeneration, cleft palate, and maxillary hypoplasia (Cervenka&#x27;s syndrome).&lt;/strong&gt; Birth Defects Orig. Art. Ser. VII(7): 83-86, 1971."None>Cohen et al. (1971)</a> described a father and 2 sons and 2 daughters with myopia, hyaloideoretinal degeneration, retinal detachment, flat face from maxillary hypoplasia, and in the father and 2 of his children, submucous cleft palate. Families that the authors felt had the same disorder also included those reported by <a href="#7" class="mim-tip-reference" title="Delaney, W. V., Podedworny, W., Havener, W. H. &lt;strong&gt;Inherited retinal detachment.&lt;/strong&gt; Arch. Ophthal. 69: 44-50, 1963.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14026621/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14026621&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archopht.1963.00960040050010&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14026621">Delaney et al. (1963)</a> and <a href="#8" class="mim-tip-reference" title="Frandsen, E. &lt;strong&gt;Hereditary hyaloideo-retinal degeneration (Wagner) in a Danish family.&lt;/strong&gt; Acta Ophthal. 44: 223-232, 1966."None>Frandsen (1966)</a>. Retinal detachment with complicating cataract and cleft palate occurred in multiple members of a family reported by <a href="#7" class="mim-tip-reference" title="Delaney, W. V., Podedworny, W., Havener, W. H. &lt;strong&gt;Inherited retinal detachment.&lt;/strong&gt; Arch. Ophthal. 69: 44-50, 1963.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14026621/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14026621&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archopht.1963.00960040050010&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14026621">Delaney et al. (1963)</a>. Two brothers reported as Pierre Robin syndrome (see <a href="/entry/261800">261800</a>) with eye complications by <a href="#18" class="mim-tip-reference" title="Smith, J. L., Stowe, F. R. &lt;strong&gt;The Pierre Robin syndrome (glossoptosis, micrognathia, cleft palate). A review of 39 cases with emphasis on associated ocular lesions.&lt;/strong&gt; Pediatrics 27: 128-133, 1961."None>Smith and Stowe (1961)</a> and by <a href="#19" class="mim-tip-reference" title="Smith, W. K. &lt;strong&gt;Pierre Robin syndrome in brothers.&lt;/strong&gt; Birth Defects Orig. Art. Ser. V(2): 220-221, 1969."None>Smith (1969)</a> probably had this condition or the Stickler syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14026621+5422347" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#23" class="mim-tip-reference" title="Zellweger, H., Smith, J. K., Grutzner, P. &lt;strong&gt;The Marshall syndrome: report of a new family.&lt;/strong&gt; J. Pediat. 84: 868-871, 1974.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4826625/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4826625&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(74)80769-9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4826625">Zellweger et al. (1974)</a> considered Marshall syndrome a distinct entity. They provided a report of the third recorded family, the others being those of <a href="#12" class="mim-tip-reference" title="Marshall, D. &lt;strong&gt;Ectodermal dysplasia: report of kindred with ocular abnormalities and hearing defect.&lt;/strong&gt; Am. J. Ophthal. 45: 143-156, 1958.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13520885/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;13520885&lt;/a&gt;]" pmid="13520885">Marshall (1958)</a> and <a href="#15" class="mim-tip-reference" title="Ruppert, E. S., Buerk, E., Pfordresher, M. F. &lt;strong&gt;Hereditary hearing loss with saddle-nose and myopia.&lt;/strong&gt; Arch. Otolaryng. 92: 95-98, 1970.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5422347/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5422347&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archotol.1970.04310010121019&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5422347">Ruppert et al. (1970)</a>. <a href="#6" class="mim-tip-reference" title="Cohen, M. M., Jr. &lt;strong&gt;The demise of the Marshall syndrome. (Letter)&lt;/strong&gt; J. Pediat. 85: 878 only, 1974.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4420090/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4420090&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(74)80373-2&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4420090">Cohen (1974)</a> wrote that 'it is time to put an end to the so-called Marshall syndrome.' Yet the book of which he was a co-author (<a href="#9" class="mim-tip-reference" title="Gorlin, R. J., Pindborg, J. J., Cohen, M. M., Jr. &lt;strong&gt;Syndromes of the Head and Neck. (2nd ed.)&lt;/strong&gt; New York: McGraw-Hill (pub.) 1976. Pp. 757-758."None>Gorlin et al., 1976</a>) listed and discussed it as a distinct entity. <a href="#6" class="mim-tip-reference" title="Cohen, M. M., Jr. &lt;strong&gt;The demise of the Marshall syndrome. (Letter)&lt;/strong&gt; J. Pediat. 85: 878 only, 1974.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4420090/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4420090&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(74)80373-2&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4420090">Cohen (1974)</a> thought the reported families in fact had Stickler syndrome. <a href="#13" class="mim-tip-reference" title="O&#x27;Donnell, J. J., Sirkin, S., Hall, B. D. &lt;strong&gt;Generalized osseous abnormalities in the Marshall syndrome.&lt;/strong&gt; Birth Defects Orig. Art. Ser. 12(5): 299-314, 1976.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/953235/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;953235&lt;/a&gt;]" pmid="953235">O'Donnell et al. (1976)</a> insisted that the Marshall syndrome is distinct from the Stickler syndrome because of the rarity of cleft palate in the former and of deafness in the latter. They found calcification of the falx cerebri and meninges in a case, as well as platyspondyly. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4826625+4420090+5422347+953235+13520885" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#22" class="mim-tip-reference" title="Winter, R. M., Baraitser, M., Laurence, K. M., Donnai, D., Hall, C. M. &lt;strong&gt;The Weissenbacher-Zweymuller, Stickler, and Marshall syndromes: further evidence for their identity.&lt;/strong&gt; Am. J. Med. Genet. 16: 189-199, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6650564/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6650564&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320160209&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6650564">Winter et al. (1983)</a> described families demonstrating nosologic overlap among Weissenbacher-Zweymuller syndrome, Stickler syndrome, and Marshall syndrome. Three unrelated children with neonatal radiologic characteristics of the Weissenbacher-Zweymuller syndrome, including small mandible, midface hypoplasia, cleft palate, and dumbbell-shaped femora, subsequently developed Marshall syndrome. The first patient was found at age 3 months to have high myopia, extensive vitreous detachments and thin peripheral retina, as well as moderate hearing loss. The second patient had a small VSD that closed spontaneously. He had nerve deafness but no eye abnormality was detected at age 2 years. The third patient had both sensorineural deafness and severe myopia. His father and 1 of 2 sisters were also affected. <a href="#22" class="mim-tip-reference" title="Winter, R. M., Baraitser, M., Laurence, K. M., Donnai, D., Hall, C. M. &lt;strong&gt;The Weissenbacher-Zweymuller, Stickler, and Marshall syndromes: further evidence for their identity.&lt;/strong&gt; Am. J. Med. Genet. 16: 189-199, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6650564/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6650564&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320160209&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6650564">Winter et al. (1983)</a> interpreted the findings in the father of patient 3 as consistent with Stickler syndrome and concluded that Marshall, WZS, and Stickler syndromes are manifestations of the identical mutation. They also noted the phenotypic overlap with Nance-Insley syndrome (OSMEDB; <a href="/entry/215150">215150</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6650564" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The distinctness of the Stickler and Marshall syndromes was strongly supported by the work of <a href="#3" class="mim-tip-reference" title="Ayme, S., Preus, M. &lt;strong&gt;The Marshall and Stickler syndromes: objective rejection of lumping.&lt;/strong&gt; J. Med. Genet. 21: 34-38, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6694183/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6694183&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.21.1.34&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6694183">Ayme and Preus (1984)</a> who surveyed published reports on the 2 syndromes. A set of 18 patients with clinical description, photographs, and radiographs was used to tabulate a list of 53 signs. Cluster analysis using these signs demonstrated 2 groups of patients. An index score based on the 20 most discriminating signs was applied to other reported patients with confirmation of the authors' diagnosis. <a href="#3" class="mim-tip-reference" title="Ayme, S., Preus, M. &lt;strong&gt;The Marshall and Stickler syndromes: objective rejection of lumping.&lt;/strong&gt; J. Med. Genet. 21: 34-38, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6694183/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6694183&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.21.1.34&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6694183">Ayme and Preus (1984)</a> concluded, therefore, that there is 'no objective reason to consider that these two syndromes are not separate dominant disorders with variable expressivity.' They suggested that the facies differ. Patients with the Marshall syndrome have a flat or retracted midface whereas those with the Stickler syndrome have a flat mala which is often erroneously described as a flat midface. Marshall syndrome patients have a thick calvaria, abnormal frontal sinuses, and intracranial calcifications. The eyeballs appear large, possibly because of a shallow orbit. <a href="#14" class="mim-tip-reference" title="Opitz, J. M., Lowry, R. B. &lt;strong&gt;Lincoln vs. Douglas again; comments on the papers by Curry et al, Greenberg et al, and Belmont et al. (Editorial)&lt;/strong&gt; Am. J. Med. Genet. 26: 69-71, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3812580/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3812580&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320260113&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3812580">Opitz and Lowry (1987)</a> stated: 'We have the strong impression that the Marshall syndrome is different from the Stickler syndrome in spite of clinical overlap.' <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6694183+3812580" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Stratton, R. F., Lee, B., Ramirez, F. &lt;strong&gt;Marshall syndrome.&lt;/strong&gt; Am. J. Med. Genet. 41: 35-38, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1951461/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1951461&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320410111&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1951461">Stratton et al. (1991)</a> reported Marshall syndrome in mother and daughter; the daughter also had the Pierre Robin sequence. The mother was 147 cm tall. Profile photograph showed flat facies with short nose and upturned tip and nares. She wore bilateral hearing aids and had high-grade myopia. There was mild brachycephaly with an area of occipital cutis aplasia, which had been present since birth. Studies of the COL2A1 gene (<a href="/entry/120140">120140</a>) showed no gross rearrangement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1951461" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Griffith, A. J., Sprunger, L. K., Sirko-Osadsa, D. A., Tiller, G. E., Meisler, M. H., Warman, M. L. &lt;strong&gt;Marshall syndrome associated with a splicing defect at the COL11A1 locus.&lt;/strong&gt; Am. J. Hum. Genet. 62: 816-823, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9529347/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9529347&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/301789&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9529347">Griffith et al. (1998)</a> described a large kindred with Marshall syndrome in which 9 affected members of the family, in 3 generations, were available for study. Features of Marshall syndrome included a markedly short nose with flat root, depression of the nasal bridge, anteverted nostrils, and retracted midface. Four of the affected persons had cleft palate and recurrent otitis media, which also were associated with Pierre Robin sequence in 1 individual. Four other affected individuals had bifid uvula. No dental anomalies were observed. Affected individuals had myopia and cataracts, which became apparent during the first decade of life and were located in subcapsular, cortical, nuclear, zonular, or anterior axial embryonic sites. Fluid vitreous humor was present in all affected individuals undergoing cataract surgery. Sensorineural hearing loss was noted as early as 3 years of age, with gradual progression to moderate or severe levels by late adulthood. Other features included short stature relative to unaffected family members and stocky build. Also observed was symptomatic osteoarthritis beginning in the fourth or fifth decades and affecting the knees and lumbosacral spine, as well as mild hypotrichosis and hypohidrosis in some affected family members. Radiologic findings included hypoplasia of the maxilla, nasal bones, and frontal sinuses, calvarial thickening and intracranial calcifications, and narrowed joint spaces, with osteophytic degeneration in the hips and knees. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9529347" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Shanske, A., Bogdanow, A., Shprintzen, R. J., Marion, R. W. &lt;strong&gt;Marshall syndrome and a defect at the COL11A1 locus. (Letter)&lt;/strong&gt; Am. J. Hum. Genet. 63: 1558-1559, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9792885/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9792885&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/302110&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9792885">Shanske et al. (1998)</a> suggested that the family reported by <a href="#10" class="mim-tip-reference" title="Griffith, A. J., Sprunger, L. K., Sirko-Osadsa, D. A., Tiller, G. E., Meisler, M. H., Warman, M. L. &lt;strong&gt;Marshall syndrome associated with a splicing defect at the COL11A1 locus.&lt;/strong&gt; Am. J. Hum. Genet. 62: 816-823, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9529347/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9529347&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/301789&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9529347">Griffith et al. (1998)</a> suffered from Stickler syndrome, not Marshall syndrome. <a href="#17" class="mim-tip-reference" title="Shanske, A. L., Bogdanow, A., Shprintzen, R. J., Marion, R. W. &lt;strong&gt;The Marshall syndrome: report of a new family and review of the literature.&lt;/strong&gt; Am. J. Med. Genet. 70: 52-57, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9129742/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9129742&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19970502)70:1&lt;52::aid-ajmg11&gt;3.0.co;2-w&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9129742">Shanske et al. (1997)</a> reported a family in which 6 members in 4 generations were affected with Marshall syndrome. From a review of the literature, they attempted to distinguish the Stickler and Marshall syndromes. In both disorders, ophthalmologic abnormalities including high myopia, as well as midfacial hypoplasia, micrognathia with or without palatal clefting, and nonspecific skeletal abnormalities have been reported. In spite of these overlaps, each of the disorders has distinctive features. Striking ocular hypertelorism and abnormalities of ectodermal derivatives had been reported only in Marshall syndrome. The phenotype described by <a href="#10" class="mim-tip-reference" title="Griffith, A. J., Sprunger, L. K., Sirko-Osadsa, D. A., Tiller, G. E., Meisler, M. H., Warman, M. L. &lt;strong&gt;Marshall syndrome associated with a splicing defect at the COL11A1 locus.&lt;/strong&gt; Am. J. Hum. Genet. 62: 816-823, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9529347/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9529347&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/301789&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9529347">Griffith et al. (1998)</a> included only 'mild' orbital hypertelorism and no evidence of ectodermal derivative abnormalities. <a href="#16" class="mim-tip-reference" title="Shanske, A., Bogdanow, A., Shprintzen, R. J., Marion, R. W. &lt;strong&gt;Marshall syndrome and a defect at the COL11A1 locus. (Letter)&lt;/strong&gt; Am. J. Hum. Genet. 63: 1558-1559, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9792885/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9792885&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/302110&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9792885">Shanske et al. (1998)</a> suggested, therefore, that the family reported by <a href="#10" class="mim-tip-reference" title="Griffith, A. J., Sprunger, L. K., Sirko-Osadsa, D. A., Tiller, G. E., Meisler, M. H., Warman, M. L. &lt;strong&gt;Marshall syndrome associated with a splicing defect at the COL11A1 locus.&lt;/strong&gt; Am. J. Hum. Genet. 62: 816-823, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9529347/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9529347&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/301789&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9529347">Griffith et al. (1998)</a> most likely did not have Marshall syndrome but had the subset of Stickler syndrome in families associated with COL11A1 mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9529347+9129742+9792885" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#21" class="mim-tip-reference" title="Warman, M. L., Tiller, G. E., Griffith, A. J. &lt;strong&gt;Reply to Shanske et al. (Letter)&lt;/strong&gt; Am. J. Hum. Genet. 63: 1559-1561, 1998."None>Warman et al. (1998)</a> vigorously defended the diagnosis of Marshall syndrome in the family they reported (<a href="#10" class="mim-tip-reference" title="Griffith, A. J., Sprunger, L. K., Sirko-Osadsa, D. A., Tiller, G. E., Meisler, M. H., Warman, M. L. &lt;strong&gt;Marshall syndrome associated with a splicing defect at the COL11A1 locus.&lt;/strong&gt; Am. J. Hum. Genet. 62: 816-823, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9529347/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9529347&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/301789&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9529347">Griffith et al., 1998</a>). They argued that a comparison of the principal findings reported by <a href="#12" class="mim-tip-reference" title="Marshall, D. &lt;strong&gt;Ectodermal dysplasia: report of kindred with ocular abnormalities and hearing defect.&lt;/strong&gt; Am. J. Ophthal. 45: 143-156, 1958.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13520885/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;13520885&lt;/a&gt;]" pmid="13520885">Marshall (1958)</a> with the findings in their family revealed high concordance, whereas comparison with the patients reported by <a href="#17" class="mim-tip-reference" title="Shanske, A. L., Bogdanow, A., Shprintzen, R. J., Marion, R. W. &lt;strong&gt;The Marshall syndrome: report of a new family and review of the literature.&lt;/strong&gt; Am. J. Med. Genet. 70: 52-57, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9129742/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9129742&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19970502)70:1&lt;52::aid-ajmg11&gt;3.0.co;2-w&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9129742">Shanske et al. (1997)</a> showed low concordance. Marshall's patients and their patients all had congenital or juvenile cataracts and fluid vitreous; none of the patients described by <a href="#17" class="mim-tip-reference" title="Shanske, A. L., Bogdanow, A., Shprintzen, R. J., Marion, R. W. &lt;strong&gt;The Marshall syndrome: report of a new family and review of the literature.&lt;/strong&gt; Am. J. Med. Genet. 70: 52-57, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9129742/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9129742&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19970502)70:1&lt;52::aid-ajmg11&gt;3.0.co;2-w&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9129742">Shanske et al. (1997)</a> had these conditions. Marshall's patients and their patients all had significant hearing loss; none of the patients described by <a href="#17" class="mim-tip-reference" title="Shanske, A. L., Bogdanow, A., Shprintzen, R. J., Marion, R. W. &lt;strong&gt;The Marshall syndrome: report of a new family and review of the literature.&lt;/strong&gt; Am. J. Med. Genet. 70: 52-57, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9129742/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9129742&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19970502)70:1&lt;52::aid-ajmg11&gt;3.0.co;2-w&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9129742">Shanske et al. (1997)</a> had hearing loss. Marshall's patients had 'ample and normal hair,' as did their patients; the patients described by <a href="#17" class="mim-tip-reference" title="Shanske, A. L., Bogdanow, A., Shprintzen, R. J., Marion, R. W. &lt;strong&gt;The Marshall syndrome: report of a new family and review of the literature.&lt;/strong&gt; Am. J. Med. Genet. 70: 52-57, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9129742/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9129742&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19970502)70:1&lt;52::aid-ajmg11&gt;3.0.co;2-w&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9129742">Shanske et al. (1997)</a> all had 'sparse' hair or a 'paucity of hair.' Two of Marshall's patients were studied radiographically; each had nasal bones that were 'small, short, and far back of their normal position.' These patients also had 'prominence of the frontal bossae,' which served to 'accentuate the flatness or depression of the bridge of the nose,' and 'thickening of the outer table of the skull and absent frontal sinuses.' In their report (<a href="#10" class="mim-tip-reference" title="Griffith, A. J., Sprunger, L. K., Sirko-Osadsa, D. A., Tiller, G. E., Meisler, M. H., Warman, M. L. &lt;strong&gt;Marshall syndrome associated with a splicing defect at the COL11A1 locus.&lt;/strong&gt; Am. J. Hum. Genet. 62: 816-823, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9529347/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9529347&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/301789&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9529347">Griffith et al., 1998</a>), a patient photograph and cranial CT scan were included that showed nearly identical features. In contrast, the patients described by <a href="#17" class="mim-tip-reference" title="Shanske, A. L., Bogdanow, A., Shprintzen, R. J., Marion, R. W. &lt;strong&gt;The Marshall syndrome: report of a new family and review of the literature.&lt;/strong&gt; Am. J. Med. Genet. 70: 52-57, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9129742/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9129742&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19970502)70:1&lt;52::aid-ajmg11&gt;3.0.co;2-w&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9129742">Shanske et al. (1997)</a> had 'significant frontal recession' and normal skeletal surveys. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9529347+9129742+13520885" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#21" class="mim-tip-reference" title="Warman, M. L., Tiller, G. E., Griffith, A. J. &lt;strong&gt;Reply to Shanske et al. (Letter)&lt;/strong&gt; Am. J. Hum. Genet. 63: 1559-1561, 1998."None>Warman et al. (1998)</a> pointed out that although the presence of ectodermal abnormalities in the patients of <a href="#12" class="mim-tip-reference" title="Marshall, D. &lt;strong&gt;Ectodermal dysplasia: report of kindred with ocular abnormalities and hearing defect.&lt;/strong&gt; Am. J. Ophthal. 45: 143-156, 1958.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13520885/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;13520885&lt;/a&gt;]" pmid="13520885">Marshall (1958)</a> had been emphasized, e.g., sparse hair, eyebrows, and eyelashes, the patients, in fact, did not have these; instead, <a href="#12" class="mim-tip-reference" title="Marshall, D. &lt;strong&gt;Ectodermal dysplasia: report of kindred with ocular abnormalities and hearing defect.&lt;/strong&gt; Am. J. Ophthal. 45: 143-156, 1958.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13520885/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;13520885&lt;/a&gt;]" pmid="13520885">Marshall (1958)</a> thought that his patients had an altered ability to sweat. When comparing his patients with a 32-year-old female control, <a href="#12" class="mim-tip-reference" title="Marshall, D. &lt;strong&gt;Ectodermal dysplasia: report of kindred with ocular abnormalities and hearing defect.&lt;/strong&gt; Am. J. Ophthal. 45: 143-156, 1958.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13520885/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;13520885&lt;/a&gt;]" pmid="13520885">Marshall (1958)</a> observed that sweat production was 'diminished, perhaps 25% below normal.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13520885" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div>
<a id="inheritance" class="mim-anchor"></a>
<h4 href="#mimInheritanceFold" id="mimInheritanceToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Inheritance</strong>
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<p>The transmission pattern of MRSHS in the family studied by <a href="#10" class="mim-tip-reference" title="Griffith, A. J., Sprunger, L. K., Sirko-Osadsa, D. A., Tiller, G. E., Meisler, M. H., Warman, M. L. &lt;strong&gt;Marshall syndrome associated with a splicing defect at the COL11A1 locus.&lt;/strong&gt; Am. J. Hum. Genet. 62: 816-823, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9529347/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9529347&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/301789&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9529347">Griffith et al. (1998)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9529347" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div>
<a id="molecularGenetics" class="mim-anchor"></a>
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<strong>Molecular Genetics</strong>
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<p>In affected members in a large kindred with Marshall syndrome in which linkage analysis had mapped the phenotype to the 1p21 region, <a href="#10" class="mim-tip-reference" title="Griffith, A. J., Sprunger, L. K., Sirko-Osadsa, D. A., Tiller, G. E., Meisler, M. H., Warman, M. L. &lt;strong&gt;Marshall syndrome associated with a splicing defect at the COL11A1 locus.&lt;/strong&gt; Am. J. Hum. Genet. 62: 816-823, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9529347/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9529347&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/301789&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9529347">Griffith et al. (1998)</a> demonstrated a splice-donor site mutation in the COL11A1 gene (<a href="/entry/120280#0002">120280.0002</a>). The results demonstrated allelism of Marshall syndrome with a subset of Stickler syndrome families associated with COL11A1 mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9529347" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Both Stickler syndrome and Marshall syndrome are dominantly inherited chondrodysplasias characterized by midfacial hypoplasia, high myopia, and sensorineural hearing deficit. Since the characteristics of these syndromes overlap, it has been argued whether they are distinct entities or different manifestations of a single syndrome. Several mutations causing Stickler syndrome had been found in the COL2A1 gene (see, e.g., <a href="/entry/120140#0005">120140.0005</a>) and 1 mutation causing Stickler syndrome (<a href="/entry/120280#0001">120280.0001</a>) and 1 causing Marshall syndrome (<a href="/entry/120280#0002">120280.0002</a>) had been detected in the COL11A1 gene. By screening patients with Stickler syndrome, Stickler-like syndrome, or Marshall syndrome, <a href="#2" class="mim-tip-reference" title="Annunen, S., Korkko, J., Czarny, M., Warman, M. L., Brunner, H. G., Kaariainen, H., Mulliken, J. B., Tranebjaerg, L., Brooks, D. G., Cox, G. F., Cruysberg, J. R., Curtis, M. A., and 13 others. &lt;strong&gt;Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.&lt;/strong&gt; Am. J. Hum. Genet. 65: 974-983, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10486316/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10486316&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=10486316[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/302585&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10486316">Annunen et al. (1999)</a> identified 23 novel mutations of the COL11A1 gene. Genotypic-phenotypic comparisons revealed an association between the Marshall syndrome phenotype and the splicing mutations of the 54-bp exons in the C-terminal region of the COL11A1 gene. Null-allele mutations in the COL2A1 gene led to the typical phenotype of Stickler syndrome. Some patients, however, presented with phenotypes of both Marshall and Stickler syndromes (<a href="/entry/120280#0003">120280.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10486316" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Majava, M., Hoornaert, K. P., Bartholdi, D., Bouma, M. C., Bouman, K., Carrera, M., Devriendt, K., Hurst, J., Kitsos, G., Niedrist, D., Petersen, M. B., Shears, D., Stolte-Dijkstra, I., Van Hagen, J. M., Ala-Kokko, L., Mannikko, M., Mortier, G. R. &lt;strong&gt;A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies.&lt;/strong&gt; Am. J. Med. Genet. 143A: 258-264, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17236192/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17236192&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.31586&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17236192">Majava et al. (2007)</a> analyzed 44 patients with a phenotype suggestive of Stickler syndrome or Marshall syndrome who were negative for mutations in the COL2A1 gene, and they identified mutations in COL11A1 in 10 patients (see, e.g., <a href="/entry/120280#0002">120280.0002</a> and <a href="/entry/120280#0006">120280.0006</a>). Four of the 10 mutation-positive patients were diagnosed with Marshall syndrome, but the remaining 6 showed an overlapping Marshall/Stickler phenotype. <a href="#11" class="mim-tip-reference" title="Majava, M., Hoornaert, K. P., Bartholdi, D., Bouma, M. C., Bouman, K., Carrera, M., Devriendt, K., Hurst, J., Kitsos, G., Niedrist, D., Petersen, M. B., Shears, D., Stolte-Dijkstra, I., Van Hagen, J. M., Ala-Kokko, L., Mannikko, M., Mortier, G. R. &lt;strong&gt;A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies.&lt;/strong&gt; Am. J. Med. Genet. 143A: 258-264, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17236192/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17236192&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.31586&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17236192">Majava et al. (2007)</a> concluded that heterozygous COL11A1 mutations can result in either Marshall syndrome or Stickler syndrome, and also in phenotypes that are difficult to classify with respect to the 2 disorders. A type I vitreous anomaly was diagnosed in a patient with a mutation in COL11A1 (<a href="/entry/120280#0006">120280.0006</a>), suggesting that the vitreous phenotype does not always allow prediction of the defective gene in Stickler and Marshall syndromes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17236192" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Ala-Kokko, L., Shanske, A. L. &lt;strong&gt;Mosaicism in Marshall syndrome. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 149A: 1327-1330, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19449424/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19449424&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32873&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19449424">Ala-Kokko and Shanske (2009)</a> reported a 3-year-old boy with Marshall syndrome in whom they identified heterozygosity for a splice site mutation in the COL11A1 gene (<a href="/entry/120280#0012">120280.0012</a>). Mosaicism for the same mutation was demonstrated in his mildly affected mother and believed to be the cause of her less severe manifestations. <a href="#1" class="mim-tip-reference" title="Ala-Kokko, L., Shanske, A. L. &lt;strong&gt;Mosaicism in Marshall syndrome. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 149A: 1327-1330, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19449424/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19449424&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32873&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19449424">Ala-Kokko and Shanske (2009)</a> stated that this was the first report of mosaicism in Marshall syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19449424" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div>
<a id="nomenclature" class="mim-anchor"></a>
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<strong>Nomenclature</strong>
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<p>Note that the designation 'Marshall syndrome' has sometimes been used for the Marshall-Smith syndrome; see <a href="/entry/602535">602535</a>.</p>
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<a id="seeAlso" class="mim-anchor"></a>
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<strong>See Also:</strong>
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<a href="#Baraitser1982" class="mim-tip-reference" title="Baraitser, M. &lt;strong&gt;Marshall/Stickler syndrome.&lt;/strong&gt; J. Med. Genet. 19: 139-140, 1982.">Baraitser (1982)</a>; <a href="#Zellweger1975" class="mim-tip-reference" title="Zellweger, H. &lt;strong&gt;Marshall syndrome: eulogy or resurrection? (Letter)&lt;/strong&gt; J. Pediat. 86: 817 only, 1975.">Zellweger (1975)</a>
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<a id="references"class="mim-anchor"></a>
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
</span>
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</div>
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
<ol>
<li>
<a id="1" class="mim-anchor"></a>
<a id="Ala-Kokko2009" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ala-Kokko, L., Shanske, A. L.
<strong>Mosaicism in Marshall syndrome. (Letter)</strong>
Am. J. Med. Genet. 149A: 1327-1330, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19449424/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19449424</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19449424" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.32873" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
<a id="Annunen1999" class="mim-anchor"></a>
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<p class="mim-text-font">
Annunen, S., Korkko, J., Czarny, M., Warman, M. L., Brunner, H. G., Kaariainen, H., Mulliken, J. B., Tranebjaerg, L., Brooks, D. G., Cox, G. F., Cruysberg, J. R., Curtis, M. A., and 13 others.
<strong>Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.</strong>
Am. J. Hum. Genet. 65: 974-983, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10486316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10486316</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10486316[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10486316" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/302585" target="_blank">Full Text</a>]
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<a id="Ayme1984" class="mim-anchor"></a>
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Ayme, S., Preus, M.
<strong>The Marshall and Stickler syndromes: objective rejection of lumping.</strong>
J. Med. Genet. 21: 34-38, 1984.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6694183/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6694183</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6694183" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.21.1.34" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="4" class="mim-anchor"></a>
<a id="Baraitser1982" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Baraitser, M.
<strong>Marshall/Stickler syndrome.</strong>
J. Med. Genet. 19: 139-140, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7077624/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7077624</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7077624" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.19.2.139" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="5" class="mim-anchor"></a>
<a id="Cohen1971" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Cohen, M. M., Jr., Knobloch, W. H., Gorlin, R. J.
<strong>A dominantly inherited syndrome of hyaloideo-retinal degeneration, cleft palate, and maxillary hypoplasia (Cervenka's syndrome).</strong>
Birth Defects Orig. Art. Ser. VII(7): 83-86, 1971.
</p>
</div>
</li>
<li>
<a id="6" class="mim-anchor"></a>
<a id="Cohen1974" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Cohen, M. M., Jr.
<strong>The demise of the Marshall syndrome. (Letter)</strong>
J. Pediat. 85: 878 only, 1974.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4420090/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4420090</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4420090" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0022-3476(74)80373-2" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="7" class="mim-anchor"></a>
<a id="Delaney1963" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Delaney, W. V., Podedworny, W., Havener, W. H.
<strong>Inherited retinal detachment.</strong>
Arch. Ophthal. 69: 44-50, 1963.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14026621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14026621</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14026621" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archopht.1963.00960040050010" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="8" class="mim-anchor"></a>
<a id="Frandsen1966" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Frandsen, E.
<strong>Hereditary hyaloideo-retinal degeneration (Wagner) in a Danish family.</strong>
Acta Ophthal. 44: 223-232, 1966.
</p>
</div>
</li>
<li>
<a id="9" class="mim-anchor"></a>
<a id="Gorlin1976" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gorlin, R. J., Pindborg, J. J., Cohen, M. M., Jr.
<strong>Syndromes of the Head and Neck. (2nd ed.)</strong>
New York: McGraw-Hill (pub.) 1976. Pp. 757-758.
</p>
</div>
</li>
<li>
<a id="10" class="mim-anchor"></a>
<a id="Griffith1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Griffith, A. J., Sprunger, L. K., Sirko-Osadsa, D. A., Tiller, G. E., Meisler, M. H., Warman, M. L.
<strong>Marshall syndrome associated with a splicing defect at the COL11A1 locus.</strong>
Am. J. Hum. Genet. 62: 816-823, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9529347/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9529347</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9529347" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/301789" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="11" class="mim-anchor"></a>
<a id="Majava2007" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Majava, M., Hoornaert, K. P., Bartholdi, D., Bouma, M. C., Bouman, K., Carrera, M., Devriendt, K., Hurst, J., Kitsos, G., Niedrist, D., Petersen, M. B., Shears, D., Stolte-Dijkstra, I., Van Hagen, J. M., Ala-Kokko, L., Mannikko, M., Mortier, G. R.
<strong>A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies.</strong>
Am. J. Med. Genet. 143A: 258-264, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17236192/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17236192</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17236192" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.31586" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="12" class="mim-anchor"></a>
<a id="Marshall1958" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Marshall, D.
<strong>Ectodermal dysplasia: report of kindred with ocular abnormalities and hearing defect.</strong>
Am. J. Ophthal. 45: 143-156, 1958.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13520885/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13520885</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13520885" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="13" class="mim-anchor"></a>
<a id="O&#x27;Donnell1976" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
O'Donnell, J. J., Sirkin, S., Hall, B. D.
<strong>Generalized osseous abnormalities in the Marshall syndrome.</strong>
Birth Defects Orig. Art. Ser. 12(5): 299-314, 1976.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/953235/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">953235</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=953235" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="14" class="mim-anchor"></a>
<a id="Opitz1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Opitz, J. M., Lowry, R. B.
<strong>Lincoln vs. Douglas again; comments on the papers by Curry et al, Greenberg et al, and Belmont et al. (Editorial)</strong>
Am. J. Med. Genet. 26: 69-71, 1987.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3812580/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3812580</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3812580" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320260113" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="15" class="mim-anchor"></a>
<a id="Ruppert1970" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ruppert, E. S., Buerk, E., Pfordresher, M. F.
<strong>Hereditary hearing loss with saddle-nose and myopia.</strong>
Arch. Otolaryng. 92: 95-98, 1970.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5422347/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5422347</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5422347" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archotol.1970.04310010121019" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="16" class="mim-anchor"></a>
<a id="Shanske1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Shanske, A., Bogdanow, A., Shprintzen, R. J., Marion, R. W.
<strong>Marshall syndrome and a defect at the COL11A1 locus. (Letter)</strong>
Am. J. Hum. Genet. 63: 1558-1559, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9792885/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9792885</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9792885" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/302110" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="17" class="mim-anchor"></a>
<a id="Shanske1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Shanske, A. L., Bogdanow, A., Shprintzen, R. J., Marion, R. W.
<strong>The Marshall syndrome: report of a new family and review of the literature.</strong>
Am. J. Med. Genet. 70: 52-57, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9129742/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9129742</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9129742" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(sici)1096-8628(19970502)70:1&lt;52::aid-ajmg11&gt;3.0.co;2-w" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="18" class="mim-anchor"></a>
<a id="Smith1961" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Smith, J. L., Stowe, F. R.
<strong>The Pierre Robin syndrome (glossoptosis, micrognathia, cleft palate). A review of 39 cases with emphasis on associated ocular lesions.</strong>
Pediatrics 27: 128-133, 1961.
</p>
</div>
</li>
<li>
<a id="19" class="mim-anchor"></a>
<a id="Smith1969" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Smith, W. K.
<strong>Pierre Robin syndrome in brothers.</strong>
Birth Defects Orig. Art. Ser. V(2): 220-221, 1969.
</p>
</div>
</li>
<li>
<a id="20" class="mim-anchor"></a>
<a id="Stratton1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Stratton, R. F., Lee, B., Ramirez, F.
<strong>Marshall syndrome.</strong>
Am. J. Med. Genet. 41: 35-38, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1951461/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1951461</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1951461" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320410111" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="21" class="mim-anchor"></a>
<a id="Warman1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Warman, M. L., Tiller, G. E., Griffith, A. J.
<strong>Reply to Shanske et al. (Letter)</strong>
Am. J. Hum. Genet. 63: 1559-1561, 1998.
</p>
</div>
</li>
<li>
<a id="22" class="mim-anchor"></a>
<a id="Winter1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Winter, R. M., Baraitser, M., Laurence, K. M., Donnai, D., Hall, C. M.
<strong>The Weissenbacher-Zweymuller, Stickler, and Marshall syndromes: further evidence for their identity.</strong>
Am. J. Med. Genet. 16: 189-199, 1983.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6650564/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6650564</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6650564" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320160209" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="23" class="mim-anchor"></a>
<a id="Zellweger1974" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Zellweger, H., Smith, J. K., Grutzner, P.
<strong>The Marshall syndrome: report of a new family.</strong>
J. Pediat. 84: 868-871, 1974.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4826625/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4826625</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4826625" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0022-3476(74)80769-9" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="24" class="mim-anchor"></a>
<a id="Zellweger1975" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Zellweger, H.
<strong>Marshall syndrome: eulogy or resurrection? (Letter)</strong>
J. Pediat. 86: 817 only, 1975.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1133671/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1133671</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1133671" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0022-3476(75)80389-1" target="_blank">Full Text</a>]
</p>
</div>
</li>
</ol>
<div>
<br />
</div>
</div>
</div>
<div>
<a id="contributors" class="mim-anchor"></a>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
<span class="mim-text-font">
<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Marla J. F. O'Neill - updated : 11/9/2012
</span>
</div>
</div>
<div class="row collapse" id="mimCollapseContributors">
<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Marla J. F. O'Neill - updated : 7/2/2007<br>Victor A. McKusick - updated : 10/8/1999<br>Victor A. McKusick - updated : 12/14/1998<br>Victor A. McKusick - updated : 5/13/1998<br>Victor A. McKusick - updated : 5/13/1997
</span>
</div>
</div>
</div>
<div>
<a id="creationDate" class="mim-anchor"></a>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
<span class="text-nowrap mim-text-font">
Creation Date:
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Victor A. McKusick : 6/2/1986
</span>
</div>
</div>
</div>
<div>
<a id="editHistory" class="mim-anchor"></a>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
<span class="text-nowrap mim-text-font">
<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
alopez : 12/14/2022
</span>
</div>
</div>
<div class="row collapse" id="mimCollapseEditHistory">
<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
alopez : 12/14/2022<br>carol : 07/07/2022<br>carol : 02/24/2020<br>carol : 07/19/2017<br>carol : 07/18/2017<br>carol : 07/12/2017<br>carol : 07/09/2016<br>carol : 11/12/2012<br>terry : 11/9/2012<br>carol : 8/8/2012<br>carol : 8/7/2012<br>terry : 3/27/2012<br>wwang : 7/6/2007<br>terry : 7/2/2007<br>terry : 11/15/2006<br>alopez : 10/18/2006<br>alopez : 10/19/1999<br>terry : 10/8/1999<br>carol : 12/14/1998<br>carol : 12/14/1998<br>alopez : 5/19/1998<br>terry : 5/13/1998<br>alopez : 5/13/1997<br>terry : 5/6/1997<br>mimadm : 11/6/1994<br>carol : 6/24/1992<br>supermim : 3/16/1992<br>carol : 10/28/1991<br>supermim : 3/20/1990<br>ddp : 10/27/1989
</span>
</div>
</div>
</div>
</div>
</div>
</div>
<div class="container visible-print-block">
<div class="row">
<div class="col-md-8 col-md-offset-1">
<div>
<div>
<h3>
<span class="mim-font">
<strong>#</strong> 154780
</span>
</h3>
</div>
<div>
<h3>
<span class="mim-font">
MARSHALL SYNDROME; MRSHS
</span>
</h3>
</div>
<div>
<br />
</div>
</div>
<div>
<p>
<span class="mim-text-font">
<strong>SNOMEDCT:</strong> 33410002; &nbsp;
<strong>ORPHA:</strong> 560; &nbsp;
<strong>DO:</strong> 0111510; &nbsp;
</span>
</p>
</div>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
1p21.1
</span>
</td>
<td>
<span class="mim-font">
Marshall syndrome
</span>
</td>
<td>
<span class="mim-font">
154780
</span>
</td>
<td>
<span class="mim-font">
Autosomal dominant
</span>
</td>
<td>
<span class="mim-font">
3
</span>
</td>
<td>
<span class="mim-font">
COL11A1
</span>
</td>
<td>
<span class="mim-font">
120280
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>TEXT</strong>
</span>
</h4>
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because of evidence that Marshall syndrome (MRSHS) is caused by heterozygous mutation in the COL11A1 gene (120280) on chromosome 1p21.</p><p>Stickler syndrome type II (604841) is an allelic disorder with overlapping features.</p>
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<h4>
<span class="mim-font">
<strong>Description</strong>
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</h4>
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<span class="mim-text-font">
<p>Marshall syndrome (MRSHS) is characterized by midfacial hypoplasia, cleft palate, ocular anomalies including high myopia and cataracts, sensorineural hearing loss, short stature with spondyloepiphyseal dysplasia, and arthropathy. In contrast to Stickler syndrome type II, it has less severe eye findings but striking ocular hypertelorism, more pronounced maxillary hypoplasia, and ectodermal abnormalities (summary by Shanske et al., 1997 and Ala-Kokko and Shanske, 2009). </p>
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<h4>
<span class="mim-font">
<strong>Clinical Features</strong>
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<span class="mim-text-font">
<p>Marshall (1958) reported 4 generations of a family in which 7 members had (1) nasal defect and facies characteristic of anhidrotic ectodermal dysplasia; (2) congenital and juvenile cataracts; (3) myopia and fluid vitreous; (4) spontaneous, sudden maturation and absorption of congenital cataract; (5) luxation of cataract and (6) congenital hearing loss. Deficiency in sweating was minimal. The transmission was autosomal dominant. </p><p>Marshall (1958) emphasized the ectodermal abnormalities, including defects in sweating and dental structures in the family he reported, which had 7 affected members in 3 generations. Shanske et al. (1997) found reports of 7 subsequently reported families, seemingly with the same disorder; they added an eighth family with 6 affected individuals in 4 generations. The affected individuals had ectodermal dysplasia and ocular hypertelorism, features not shared by Stickler syndrome (see 108300), Wagner syndrome (143200), or Weissenbacher-Zweymuller syndrome (WZS; 184840), all of which are conditions often confused with Marshall syndrome. The proposita of the African American family had sparse scalp hair and sparse eyebrows and lashes, but her teeth, nails, and sweating were normal. Craniofacial surgery was performed for hypertelorism. Her 2 brothers were also affected and had craniofacial surgery. </p><p>Ruppert et al. (1970) described father and daughter with features like those in Marshall's family, namely saddle nose, myopia, and deafness and, in the father, cataracts. Cohen et al. (1971) described a father and 2 sons and 2 daughters with myopia, hyaloideoretinal degeneration, retinal detachment, flat face from maxillary hypoplasia, and in the father and 2 of his children, submucous cleft palate. Families that the authors felt had the same disorder also included those reported by Delaney et al. (1963) and Frandsen (1966). Retinal detachment with complicating cataract and cleft palate occurred in multiple members of a family reported by Delaney et al. (1963). Two brothers reported as Pierre Robin syndrome (see 261800) with eye complications by Smith and Stowe (1961) and by Smith (1969) probably had this condition or the Stickler syndrome. </p><p>Zellweger et al. (1974) considered Marshall syndrome a distinct entity. They provided a report of the third recorded family, the others being those of Marshall (1958) and Ruppert et al. (1970). Cohen (1974) wrote that 'it is time to put an end to the so-called Marshall syndrome.' Yet the book of which he was a co-author (Gorlin et al., 1976) listed and discussed it as a distinct entity. Cohen (1974) thought the reported families in fact had Stickler syndrome. O'Donnell et al. (1976) insisted that the Marshall syndrome is distinct from the Stickler syndrome because of the rarity of cleft palate in the former and of deafness in the latter. They found calcification of the falx cerebri and meninges in a case, as well as platyspondyly. </p><p>Winter et al. (1983) described families demonstrating nosologic overlap among Weissenbacher-Zweymuller syndrome, Stickler syndrome, and Marshall syndrome. Three unrelated children with neonatal radiologic characteristics of the Weissenbacher-Zweymuller syndrome, including small mandible, midface hypoplasia, cleft palate, and dumbbell-shaped femora, subsequently developed Marshall syndrome. The first patient was found at age 3 months to have high myopia, extensive vitreous detachments and thin peripheral retina, as well as moderate hearing loss. The second patient had a small VSD that closed spontaneously. He had nerve deafness but no eye abnormality was detected at age 2 years. The third patient had both sensorineural deafness and severe myopia. His father and 1 of 2 sisters were also affected. Winter et al. (1983) interpreted the findings in the father of patient 3 as consistent with Stickler syndrome and concluded that Marshall, WZS, and Stickler syndromes are manifestations of the identical mutation. They also noted the phenotypic overlap with Nance-Insley syndrome (OSMEDB; 215150). </p><p>The distinctness of the Stickler and Marshall syndromes was strongly supported by the work of Ayme and Preus (1984) who surveyed published reports on the 2 syndromes. A set of 18 patients with clinical description, photographs, and radiographs was used to tabulate a list of 53 signs. Cluster analysis using these signs demonstrated 2 groups of patients. An index score based on the 20 most discriminating signs was applied to other reported patients with confirmation of the authors' diagnosis. Ayme and Preus (1984) concluded, therefore, that there is 'no objective reason to consider that these two syndromes are not separate dominant disorders with variable expressivity.' They suggested that the facies differ. Patients with the Marshall syndrome have a flat or retracted midface whereas those with the Stickler syndrome have a flat mala which is often erroneously described as a flat midface. Marshall syndrome patients have a thick calvaria, abnormal frontal sinuses, and intracranial calcifications. The eyeballs appear large, possibly because of a shallow orbit. Opitz and Lowry (1987) stated: 'We have the strong impression that the Marshall syndrome is different from the Stickler syndrome in spite of clinical overlap.' </p><p>Stratton et al. (1991) reported Marshall syndrome in mother and daughter; the daughter also had the Pierre Robin sequence. The mother was 147 cm tall. Profile photograph showed flat facies with short nose and upturned tip and nares. She wore bilateral hearing aids and had high-grade myopia. There was mild brachycephaly with an area of occipital cutis aplasia, which had been present since birth. Studies of the COL2A1 gene (120140) showed no gross rearrangement. </p><p>Griffith et al. (1998) described a large kindred with Marshall syndrome in which 9 affected members of the family, in 3 generations, were available for study. Features of Marshall syndrome included a markedly short nose with flat root, depression of the nasal bridge, anteverted nostrils, and retracted midface. Four of the affected persons had cleft palate and recurrent otitis media, which also were associated with Pierre Robin sequence in 1 individual. Four other affected individuals had bifid uvula. No dental anomalies were observed. Affected individuals had myopia and cataracts, which became apparent during the first decade of life and were located in subcapsular, cortical, nuclear, zonular, or anterior axial embryonic sites. Fluid vitreous humor was present in all affected individuals undergoing cataract surgery. Sensorineural hearing loss was noted as early as 3 years of age, with gradual progression to moderate or severe levels by late adulthood. Other features included short stature relative to unaffected family members and stocky build. Also observed was symptomatic osteoarthritis beginning in the fourth or fifth decades and affecting the knees and lumbosacral spine, as well as mild hypotrichosis and hypohidrosis in some affected family members. Radiologic findings included hypoplasia of the maxilla, nasal bones, and frontal sinuses, calvarial thickening and intracranial calcifications, and narrowed joint spaces, with osteophytic degeneration in the hips and knees. </p><p>Shanske et al. (1998) suggested that the family reported by Griffith et al. (1998) suffered from Stickler syndrome, not Marshall syndrome. Shanske et al. (1997) reported a family in which 6 members in 4 generations were affected with Marshall syndrome. From a review of the literature, they attempted to distinguish the Stickler and Marshall syndromes. In both disorders, ophthalmologic abnormalities including high myopia, as well as midfacial hypoplasia, micrognathia with or without palatal clefting, and nonspecific skeletal abnormalities have been reported. In spite of these overlaps, each of the disorders has distinctive features. Striking ocular hypertelorism and abnormalities of ectodermal derivatives had been reported only in Marshall syndrome. The phenotype described by Griffith et al. (1998) included only 'mild' orbital hypertelorism and no evidence of ectodermal derivative abnormalities. Shanske et al. (1998) suggested, therefore, that the family reported by Griffith et al. (1998) most likely did not have Marshall syndrome but had the subset of Stickler syndrome in families associated with COL11A1 mutations. </p><p>Warman et al. (1998) vigorously defended the diagnosis of Marshall syndrome in the family they reported (Griffith et al., 1998). They argued that a comparison of the principal findings reported by Marshall (1958) with the findings in their family revealed high concordance, whereas comparison with the patients reported by Shanske et al. (1997) showed low concordance. Marshall's patients and their patients all had congenital or juvenile cataracts and fluid vitreous; none of the patients described by Shanske et al. (1997) had these conditions. Marshall's patients and their patients all had significant hearing loss; none of the patients described by Shanske et al. (1997) had hearing loss. Marshall's patients had 'ample and normal hair,' as did their patients; the patients described by Shanske et al. (1997) all had 'sparse' hair or a 'paucity of hair.' Two of Marshall's patients were studied radiographically; each had nasal bones that were 'small, short, and far back of their normal position.' These patients also had 'prominence of the frontal bossae,' which served to 'accentuate the flatness or depression of the bridge of the nose,' and 'thickening of the outer table of the skull and absent frontal sinuses.' In their report (Griffith et al., 1998), a patient photograph and cranial CT scan were included that showed nearly identical features. In contrast, the patients described by Shanske et al. (1997) had 'significant frontal recession' and normal skeletal surveys. </p><p>Warman et al. (1998) pointed out that although the presence of ectodermal abnormalities in the patients of Marshall (1958) had been emphasized, e.g., sparse hair, eyebrows, and eyelashes, the patients, in fact, did not have these; instead, Marshall (1958) thought that his patients had an altered ability to sweat. When comparing his patients with a 32-year-old female control, Marshall (1958) observed that sweat production was 'diminished, perhaps 25% below normal.' </p>
</span>
<div>
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<div>
<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>The transmission pattern of MRSHS in the family studied by Griffith et al. (1998) was consistent with autosomal dominant inheritance. </p>
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</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In affected members in a large kindred with Marshall syndrome in which linkage analysis had mapped the phenotype to the 1p21 region, Griffith et al. (1998) demonstrated a splice-donor site mutation in the COL11A1 gene (120280.0002). The results demonstrated allelism of Marshall syndrome with a subset of Stickler syndrome families associated with COL11A1 mutations. </p><p>Both Stickler syndrome and Marshall syndrome are dominantly inherited chondrodysplasias characterized by midfacial hypoplasia, high myopia, and sensorineural hearing deficit. Since the characteristics of these syndromes overlap, it has been argued whether they are distinct entities or different manifestations of a single syndrome. Several mutations causing Stickler syndrome had been found in the COL2A1 gene (see, e.g., 120140.0005) and 1 mutation causing Stickler syndrome (120280.0001) and 1 causing Marshall syndrome (120280.0002) had been detected in the COL11A1 gene. By screening patients with Stickler syndrome, Stickler-like syndrome, or Marshall syndrome, Annunen et al. (1999) identified 23 novel mutations of the COL11A1 gene. Genotypic-phenotypic comparisons revealed an association between the Marshall syndrome phenotype and the splicing mutations of the 54-bp exons in the C-terminal region of the COL11A1 gene. Null-allele mutations in the COL2A1 gene led to the typical phenotype of Stickler syndrome. Some patients, however, presented with phenotypes of both Marshall and Stickler syndromes (120280.0003). </p><p>Majava et al. (2007) analyzed 44 patients with a phenotype suggestive of Stickler syndrome or Marshall syndrome who were negative for mutations in the COL2A1 gene, and they identified mutations in COL11A1 in 10 patients (see, e.g., 120280.0002 and 120280.0006). Four of the 10 mutation-positive patients were diagnosed with Marshall syndrome, but the remaining 6 showed an overlapping Marshall/Stickler phenotype. Majava et al. (2007) concluded that heterozygous COL11A1 mutations can result in either Marshall syndrome or Stickler syndrome, and also in phenotypes that are difficult to classify with respect to the 2 disorders. A type I vitreous anomaly was diagnosed in a patient with a mutation in COL11A1 (120280.0006), suggesting that the vitreous phenotype does not always allow prediction of the defective gene in Stickler and Marshall syndromes. </p><p>Ala-Kokko and Shanske (2009) reported a 3-year-old boy with Marshall syndrome in whom they identified heterozygosity for a splice site mutation in the COL11A1 gene (120280.0012). Mosaicism for the same mutation was demonstrated in his mildly affected mother and believed to be the cause of her less severe manifestations. Ala-Kokko and Shanske (2009) stated that this was the first report of mosaicism in Marshall syndrome. </p>
</span>
<div>
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</div>
<div>
<h4>
<span class="mim-font">
<strong>Nomenclature</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Note that the designation 'Marshall syndrome' has sometimes been used for the Marshall-Smith syndrome; see 602535.</p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Baraitser (1982); Zellweger (1975)
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</div>
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<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
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</h4>
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<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Ala-Kokko, L., Shanske, A. L.
<strong>Mosaicism in Marshall syndrome. (Letter)</strong>
Am. J. Med. Genet. 149A: 1327-1330, 2009.
[PubMed: 19449424]
[Full Text: https://doi.org/10.1002/ajmg.a.32873]
</p>
</li>
<li>
<p class="mim-text-font">
Annunen, S., Korkko, J., Czarny, M., Warman, M. L., Brunner, H. G., Kaariainen, H., Mulliken, J. B., Tranebjaerg, L., Brooks, D. G., Cox, G. F., Cruysberg, J. R., Curtis, M. A., and 13 others.
<strong>Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.</strong>
Am. J. Hum. Genet. 65: 974-983, 1999.
[PubMed: 10486316]
[Full Text: https://doi.org/10.1086/302585]
</p>
</li>
<li>
<p class="mim-text-font">
Ayme, S., Preus, M.
<strong>The Marshall and Stickler syndromes: objective rejection of lumping.</strong>
J. Med. Genet. 21: 34-38, 1984.
[PubMed: 6694183]
[Full Text: https://doi.org/10.1136/jmg.21.1.34]
</p>
</li>
<li>
<p class="mim-text-font">
Baraitser, M.
<strong>Marshall/Stickler syndrome.</strong>
J. Med. Genet. 19: 139-140, 1982.
[PubMed: 7077624]
[Full Text: https://doi.org/10.1136/jmg.19.2.139]
</p>
</li>
<li>
<p class="mim-text-font">
Cohen, M. M., Jr., Knobloch, W. H., Gorlin, R. J.
<strong>A dominantly inherited syndrome of hyaloideo-retinal degeneration, cleft palate, and maxillary hypoplasia (Cervenka&#x27;s syndrome).</strong>
Birth Defects Orig. Art. Ser. VII(7): 83-86, 1971.
</p>
</li>
<li>
<p class="mim-text-font">
Cohen, M. M., Jr.
<strong>The demise of the Marshall syndrome. (Letter)</strong>
J. Pediat. 85: 878 only, 1974.
[PubMed: 4420090]
[Full Text: https://doi.org/10.1016/s0022-3476(74)80373-2]
</p>
</li>
<li>
<p class="mim-text-font">
Delaney, W. V., Podedworny, W., Havener, W. H.
<strong>Inherited retinal detachment.</strong>
Arch. Ophthal. 69: 44-50, 1963.
[PubMed: 14026621]
[Full Text: https://doi.org/10.1001/archopht.1963.00960040050010]
</p>
</li>
<li>
<p class="mim-text-font">
Frandsen, E.
<strong>Hereditary hyaloideo-retinal degeneration (Wagner) in a Danish family.</strong>
Acta Ophthal. 44: 223-232, 1966.
</p>
</li>
<li>
<p class="mim-text-font">
Gorlin, R. J., Pindborg, J. J., Cohen, M. M., Jr.
<strong>Syndromes of the Head and Neck. (2nd ed.)</strong>
New York: McGraw-Hill (pub.) 1976. Pp. 757-758.
</p>
</li>
<li>
<p class="mim-text-font">
Griffith, A. J., Sprunger, L. K., Sirko-Osadsa, D. A., Tiller, G. E., Meisler, M. H., Warman, M. L.
<strong>Marshall syndrome associated with a splicing defect at the COL11A1 locus.</strong>
Am. J. Hum. Genet. 62: 816-823, 1998.
[PubMed: 9529347]
[Full Text: https://doi.org/10.1086/301789]
</p>
</li>
<li>
<p class="mim-text-font">
Majava, M., Hoornaert, K. P., Bartholdi, D., Bouma, M. C., Bouman, K., Carrera, M., Devriendt, K., Hurst, J., Kitsos, G., Niedrist, D., Petersen, M. B., Shears, D., Stolte-Dijkstra, I., Van Hagen, J. M., Ala-Kokko, L., Mannikko, M., Mortier, G. R.
<strong>A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies.</strong>
Am. J. Med. Genet. 143A: 258-264, 2007.
[PubMed: 17236192]
[Full Text: https://doi.org/10.1002/ajmg.a.31586]
</p>
</li>
<li>
<p class="mim-text-font">
Marshall, D.
<strong>Ectodermal dysplasia: report of kindred with ocular abnormalities and hearing defect.</strong>
Am. J. Ophthal. 45: 143-156, 1958.
[PubMed: 13520885]
</p>
</li>
<li>
<p class="mim-text-font">
O'Donnell, J. J., Sirkin, S., Hall, B. D.
<strong>Generalized osseous abnormalities in the Marshall syndrome.</strong>
Birth Defects Orig. Art. Ser. 12(5): 299-314, 1976.
[PubMed: 953235]
</p>
</li>
<li>
<p class="mim-text-font">
Opitz, J. M., Lowry, R. B.
<strong>Lincoln vs. Douglas again; comments on the papers by Curry et al, Greenberg et al, and Belmont et al. (Editorial)</strong>
Am. J. Med. Genet. 26: 69-71, 1987.
[PubMed: 3812580]
[Full Text: https://doi.org/10.1002/ajmg.1320260113]
</p>
</li>
<li>
<p class="mim-text-font">
Ruppert, E. S., Buerk, E., Pfordresher, M. F.
<strong>Hereditary hearing loss with saddle-nose and myopia.</strong>
Arch. Otolaryng. 92: 95-98, 1970.
[PubMed: 5422347]
[Full Text: https://doi.org/10.1001/archotol.1970.04310010121019]
</p>
</li>
<li>
<p class="mim-text-font">
Shanske, A., Bogdanow, A., Shprintzen, R. J., Marion, R. W.
<strong>Marshall syndrome and a defect at the COL11A1 locus. (Letter)</strong>
Am. J. Hum. Genet. 63: 1558-1559, 1998.
[PubMed: 9792885]
[Full Text: https://doi.org/10.1086/302110]
</p>
</li>
<li>
<p class="mim-text-font">
Shanske, A. L., Bogdanow, A., Shprintzen, R. J., Marion, R. W.
<strong>The Marshall syndrome: report of a new family and review of the literature.</strong>
Am. J. Med. Genet. 70: 52-57, 1997.
[PubMed: 9129742]
[Full Text: https://doi.org/10.1002/(sici)1096-8628(19970502)70:1&lt;52::aid-ajmg11&gt;3.0.co;2-w]
</p>
</li>
<li>
<p class="mim-text-font">
Smith, J. L., Stowe, F. R.
<strong>The Pierre Robin syndrome (glossoptosis, micrognathia, cleft palate). A review of 39 cases with emphasis on associated ocular lesions.</strong>
Pediatrics 27: 128-133, 1961.
</p>
</li>
<li>
<p class="mim-text-font">
Smith, W. K.
<strong>Pierre Robin syndrome in brothers.</strong>
Birth Defects Orig. Art. Ser. V(2): 220-221, 1969.
</p>
</li>
<li>
<p class="mim-text-font">
Stratton, R. F., Lee, B., Ramirez, F.
<strong>Marshall syndrome.</strong>
Am. J. Med. Genet. 41: 35-38, 1991.
[PubMed: 1951461]
[Full Text: https://doi.org/10.1002/ajmg.1320410111]
</p>
</li>
<li>
<p class="mim-text-font">
Warman, M. L., Tiller, G. E., Griffith, A. J.
<strong>Reply to Shanske et al. (Letter)</strong>
Am. J. Hum. Genet. 63: 1559-1561, 1998.
</p>
</li>
<li>
<p class="mim-text-font">
Winter, R. M., Baraitser, M., Laurence, K. M., Donnai, D., Hall, C. M.
<strong>The Weissenbacher-Zweymuller, Stickler, and Marshall syndromes: further evidence for their identity.</strong>
Am. J. Med. Genet. 16: 189-199, 1983.
[PubMed: 6650564]
[Full Text: https://doi.org/10.1002/ajmg.1320160209]
</p>
</li>
<li>
<p class="mim-text-font">
Zellweger, H., Smith, J. K., Grutzner, P.
<strong>The Marshall syndrome: report of a new family.</strong>
J. Pediat. 84: 868-871, 1974.
[PubMed: 4826625]
[Full Text: https://doi.org/10.1016/s0022-3476(74)80769-9]
</p>
</li>
<li>
<p class="mim-text-font">
Zellweger, H.
<strong>Marshall syndrome: eulogy or resurrection? (Letter)</strong>
J. Pediat. 86: 817 only, 1975.
[PubMed: 1133671]
[Full Text: https://doi.org/10.1016/s0022-3476(75)80389-1]
</p>
</li>
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Marla J. F. O&#x27;Neill - updated : 11/9/2012<br>Marla J. F. O&#x27;Neill - updated : 7/2/2007<br>Victor A. McKusick - updated : 10/8/1999<br>Victor A. McKusick - updated : 12/14/1998<br>Victor A. McKusick - updated : 5/13/1998<br>Victor A. McKusick - updated : 5/13/1997
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Victor A. McKusick : 6/2/1986
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